Links from MedGen
Items: 2
| Gene(s) | Protein change | Condition(s) | Clinical significance
(Last reviewed) | Review status |
|---|
| - GRCh37:
- Chr7:30643121
- GRCh38:
- Chr7:30603505
| GARS1 | Q169R, Q223R | GARS1-related neuropathies, Charcot-Marie-Tooth disease type 2 | Uncertain significance
(Aug 31, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr7:30668227
- GRCh38:
- Chr7:30628611
| GARS1 | I584N, I530N | Charcot-Marie-Tooth disease type 2, GARS-Associated Axonal Neuropathy, not provided
| Uncertain significance
(Sep 6, 2022) | criteria provided, multiple submitters, no conflicts |